Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CCDC38_chr12_95862048_95947614	95908588	AGAGGGAG others(89): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG GAGAGGGAGAGGGAGAGGGAGGAGAGGGAGAGGGAGAGGGAGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0127 a0002c0004t0001g0127	1	348	0.0029	-96	c.305 others(113): Show c.305-2233_305-2138delCCCCTCTCCCTCTCCCTCTCCCTCTCCT CCCTCTCCCTCTCCCTCTCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CD36_chr7_80633642_80684274	80683582	TATATACA others(89): Show TATATACACACATATATACATATATATGTATATATACACACATATATACA TATATATGTATATATACACACATATATACATATATGTATATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG03041.hp1 HG03139.hp1 HG01099.hp1 HG03041.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0056 a0001c0001t0057 a0001c0001t0037 a0001c0001t0056 a0001c0001t0057	a0001c0001t0037g0270 a0001c0001t0056g0051 a0001c0001t0057g0050 a0001c0001t0037g0270 a0001c0001t0056g0051 a0001c0001t0057g0050	3	390	0.0077	-96	c.72 others(107): Show c.7200_*7295delATATACACACATATATACATATATATGTATATAT ACACACATATATACATATATATGTATATATACACACATATATACATATAT GTATATATACAC	CD36	ENSG00000135218.19	transcript	ENST00000447544.7	protein_coding		4309		chr7	TogoVar
CDC5L_chr6_44382706_44455425	44391025	CATATTTA others(89): Show CATATTTAATATGTTATATATTATATATTAAACATATTTAATATGTTATA TATTATATATTAAACATTTAATATGTTATATATTATATATTAAACAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	347	0.0029	-96	c.149 others(111): Show c.149+657_149+752delATTTAATATGTTATATATTATATATTAAAC ATATTTAATATGTTATATATTATATATTAAACATTTAATATGTTATATAT TATATATTAAACATAT	CDC5L	ENSG00000096401.8	transcript	ENST00000371477.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDH4_chr20_61247261_61945617	61945521	CGCTGAGG others(89): Show CGCTGAGGAGCACTGCAACCATCTGCACCGTGGCCGCCCCTTCTCACCGA TGATGAGGAACATTGAGACTGTCTGCCCCGTGGCTGCCCCTTCTCAC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0008 a0001c0012t0001g0008	1	106	0.0094	-96	c.85 others(107): Show c.8579_*8674delGCTGAGGAGCACTGCAACCATCTGCACCGTGGCC GCCCCTTCTCACCGATGATGAGGAACATTGAGACTGTCTGCCCCGTGGCT GCCCCTTCTCAC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4905		chr20	TogoVar
CDK2AP1_chr12_123255976_123276856	123274997	AGGTGCTG others(89): Show AGGTGCTGAGGGGCTGAGGGGCTGAGGTGCTGAGGGGCTGAGGTGCTGAG GGGCTGAGGGGCTGGGGTGCTGAGGGGCTGAGGTGCTGAGGGGCTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	317	0.0032	-96	c.-34 others(107): Show c.-3475_-3380delCCAGCCCCTCAGCACCTCAGCCCCTCAGCACCCC AGCCCCTCAGCCCCTCAGCACCTCAGCCCCTCAGCACCTCAGCCCCTCAG CCCCTCAGCACC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3142		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123275013	AGGGGCTG others(89): Show AGGGGCTGAGGTGCTGAGGGGCTGAGGTGCTGAGGGGCTGAGGGGCTGGG GTGCTGAGGGGCTGAGGTGCTGAGGGGCTGGGGTGCTGAGGGGCTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 NA18951.hp2 NA18977.hp2 others(1): Show HG02976.hp2 NA18951.hp2 NA18977.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0018 a0001c0001t0007g0129 a0001c0001t0003g0018 a0001c0001t0007g0129	4	323	0.0124	-96	c.-34 others(107): Show c.-3491_-3396delCCAGCCCCTCAGCACCCCAGCCCCTCAGCACCTC AGCCCCTCAGCACCCCAGCCCCTCAGCCCCTCAGCACCTCAGCCCCTCAG CACCTCAGCCCC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3158		chr12	TogoVar
CDKN2A_chr9_21962752_21999392	21980996	ATATATAC others(89): Show ATATATACGTGTATATATATATATACGTGTATATATATATACGTGTATAT ATATATATACGTGTATATATATATACGTGTATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA19084.hp2 HG01099.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0203 a0001c0001t0001g0091 a0001c0001t0001g0203	2	402	0.0050	-96	c.194 others(113): Show c.194-9884_194-9789delCACGTATATATATATATACACGTATATA TATATACACGTATATATATATATACACGTATATATATATACACGTATATA TATATATACACGTATATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CEP104_chr1_3807086_3862211	3832410	CGTAGGTC others(89): Show CGTAGGTCCTGACCAGGAGTGTAGCGTAGGTCGTGACCAGGAGTGTAGCG TAGGTCGTGACCAGGAGTGTAGCGTAGGTCGTGACCAGGAGTGTAGT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02451.hp2 HG02559.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0015 a0006c0008t0015	a0006c0008t0015g0138 a0006c0008t0015g0139 a0006c0008t0015g0138 a0006c0008t0015g0139	2	380	0.0053	-96	c.166 others(115): Show c.1660-1284_1660-1189delACTACACTCCTGGTCACGACCTACGC TACACTCCTGGTCACGACCTACGCTACACTCCTGGTCACGACCTACGCTA CACTCCTGGTCAGGACCTAC	CEP104	ENSG00000116198.14	transcript	ENST00000378230.8	protein_coding	12/21			chr1	TogoVar
CEP104_chr1_3807086_3862211	3832444	GACCAGGA others(89): Show GACCAGGAGTGTAGCGTAGGTCGTGACCAGGAGTGTAGCGTAGGTCGTGA CCAGGAGTGTAGTGTAGGTCGTGACCAGGAGTGTAGTGTAGGTCATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03669.hp1 HG01884.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0096 a0002c0002t0001g0073 a0002c0002t0001g0096	2	374	0.0053	-96	c.166 others(115): Show c.1660-1318_1660-1223delTATGACCTACACTACACTCCTGGTCA CGACCTACACTACACTCCTGGTCACGACCTACGCTACACTCCTGGTCACG ACCTACGCTACACTCCTGGT	CEP104	ENSG00000116198.14	transcript	ENST00000378230.8	protein_coding	12/21			chr1	TogoVar
CEP72_chr5_607340_658553	650828	GACTGTGA others(89): Show GACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGA GGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGGACTGTGAGGTGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0017 a0003c0005t0002g0017	1	90	0.0111	-96	c.177 others(115): Show c.1779-2159_1779-2064delACTGTGAGGCGTGGACTGTGAGGCGT GGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTG AGGTGTGGACTGTGAGGTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CERCAM_chr9_128415857_128442347	128437918	TACACGTA others(89): Show TACACGTATATACACGTATATACACACACGTATATACACGTATATACACA CACGTATATACACGTATATACACACACGTATATACACGTATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	279	0.0036	-96	c.10 others(107): Show c.1071_*1166delACACGTATATACACGTATATACACACACGTATAT ACACGTATATACACACACGTATATACACGTATATACACACACGTATATAC ACGTATATACAC	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		572		chr9	TogoVar
CFAP221_chr2_119539449_119661661	119552287	TAATAAAT others(89): Show TAATAAATAGAAATATTTCTTTCTTTAATAAGAAATAAATAGAAATATTT CTTTCTTTAATAAGAAATAAATAGAAATATTTCTTTCTTTAATAAGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02257.hp2 others(12): Show HG01109.hp2 HG02109.hp2 HG02257.hp2 HG02572.hp1 HG02615.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp2 HG03540.hp2 HG03927.hp1 NA18986.hp1 NA19057.hp2 NA19240.hp2	a0002 a0003 a0007 others(1): Show a0002 a0003 a0007 a0011	a0002c0002 a0003c0003 a0007c0011 others(1): Show a0002c0002 a0003c0003 a0007c0011 a0011c0013	a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 others(2): Show a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 a0007c0011t0002 a0011c0013t0001	a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0055 others(12): Show a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0056 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0050 a0007c0011t0002g0046 a0011c0013t0001g0052	15	165	0.0909	-96	c.240 others(113): Show c.240+3476_240+3571delCTTTAATAAGAAATAAATAGAAATATTT CTTTCTTTAATAAGAAATAAATAGAAATATTTCTTTCTTTAATAAGAAAT AAATAGAAATATTTCTTT	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP46_chr10_132803392_132947570	132946641	ACTCAGGA others(89): Show ACTCAGGATCCCAGGATCCCAGCACCCCAGCACCCCAGCACCCCAGCATC CCAGCACCCCAGCACCCTAGCACCCCAGCATCCCAGCACCCCAGCAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG02630.hp1 HG01069.hp2 HG02630.hp1	a0012 a0033 a0012 a0033	a0012c0025 a0033c0074 a0012c0025 a0033c0074	a0012c0025t0002 a0033c0074t0002 a0012c0025t0002 a0033c0074t0002	a0012c0025t0002g0007 a0033c0074t0002g0006 a0012c0025t0002g0007 a0033c0074t0002g0006	2	244	0.0082	-96	c.-42 others(107): Show c.-4253_-4158delATGCTGGGGTGCTGGGATGCTGGGGTGCTAGGGT GCTGGGGTGCTGGGATGCTGGGGTGCTGGGGTGCTGGGGTGCTGGGATCC TGGGATCCTGAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding		4072		chr10	TogoVar
CFAP46_chr10_132803392_132947570	132946643	TCAGGATC others(89): Show TCAGGATCCCAGGATCCCAGCACCCCAGCACCCCAGCACCCCAGCATCCC AGCACCCCAGCACCCTAGCACCCCAGCATCCCAGCACCCCAGCATCT	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0047 a0047	a0047c0070 a0047c0070	a0047c0070t0002 a0047c0070t0002	a0047c0070t0002g0008 a0047c0070t0002g0008	1	244	0.0041	-96	c.-42 others(107): Show c.-4255_-4160delAGATGCTGGGGTGCTGGGATGCTGGGGTGCTAGG GTGCTGGGGTGCTGGGATGCTGGGGTGCTGGGGTGCTGGGGTGCTGGGAT CCTGGGATCCTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding		4074		chr10	TogoVar
CFAP54_chr12_96484577_96880555	96664689	GTATATAT others(89): Show GTATATATCTATATATATATATATATCTATATATATCTATATATATATAT CTATATATATATATATCTATATATATCTATATCTATATCTATATATA	G G	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19082.hp1 NA18970.hp1 NA19082.hp1	a0002 a0002	a0002c0003 a0002c0091 a0002c0003 a0002c0091	a0002c0003t0001 a0002c0091t0001 a0002c0003t0001 a0002c0091t0001	a0002c0003t0001g0141 a0002c0091t0001g0138 a0002c0003t0001g0141 a0002c0091t0001g0138	2	156	0.0128	-96	c.556 others(113): Show c.5563+765_5563+860delCTATATATATATATATATCTATATATAT CTATATATATATATCTATATATATATATATCTATATATATCTATATCTAT ATCTATATATATATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP97D2_chr13_114174257_114228085	114213875	CCCCACCC others(89): Show CCCCACCCCTATGGAAGCTCCAGGACCACAAACCCCACCCCTGGACAAGC TCCAGGACCACAGACCCCCACCCCTATGGAAGCTCCAGGACCACAGA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00639.hp1 others(27): Show HG00408.hp1 HG00423.hp2 HG00639.hp1 HG01243.hp2 HG01257.hp1 HG02132.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG04228.hp1 NA18952.hp1 NA18955.hp2 NA18983.hp2 NA18985.hp2 NA18992.hp1 NA19089.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008	a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 others(24): Show a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0105 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0110 a0001c0001t0007g0053 a0001c0001t0007g0121 a0001c0001t0007g0134 a0001c0001t0007g0156 a0001c0001t0007g0187 a0001c0001t0007g0266 a0001c0001t0008g0104	30	398	0.0754	-96	c.291 others(113): Show c.291-8622_291-8527delACCCCTATGGAAGCTCCAGGACCACAAA CCCCACCCCTGGACAAGCTCCAGGACCACAGACCCCCACCCCTATGGAAG CTCCAGGACCACAGACCC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CHRFAM7A_chr15_30355566_30398540	30375828	AGTGTTGA others(89): Show AGTGTTGAGTCGTGTGGGTGGTATGTGAGTGGTTGTGTGAGTGGTGTGTG TGTTGAGTCGTGTGGGTGGTATGTGAGTGGTTGTGTGAGTGGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(102): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG01069.hp1 HG01069.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02273.hp1 HG02273.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18999.hp1 NA18999.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19075.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0007 a0001c0018 others(20): Show a0001c0001 a0001c0007 a0001c0018 a0001c0023 a0001c0024 a0002c0002 a0002c0008 a0002c0009 a0002c0010 a0002c0011 a0002c0015 a0002c0016 a0002c0017 a0002c0026 a0002c0027 a0002c0028 a0002c0031 a0004c0004 a0004c0014 a0005c0005 a0006c0025 a0007c0022 a0008c0029	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(34): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 a0001c0001t0026 a0001c0001t0033 a0001c0007t0001 a0001c0018t0001 a0001c0023t0001 a0001c0024t0028 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0013 a0002c0008t0010 a0002c0008t0017 a0002c0009t0008 a0002c0010t0010 a0002c0011t0006 a0002c0015t0007 a0002c0015t0012 a0002c0016t0018 a0002c0017t0006 a0002c0026t0010 a0002c0027t0008 a0002c0028t0001 a0002c0031t0006 a0004c0004t0003 a0004c0014t0016 a0005c0005t0005 a0005c0005t0027 a0006c0025t0004 a0007c0022t0012 a0008c0029t0013	a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0047 others(99): Show a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0004g0064 a0001c0001t0004g0069 a0001c0001t0004g0095 a0001c0001t0011g0115 a0001c0001t0011g0116 a0001c0001t0011g0126 a0001c0001t0014g0067 a0001c0001t0014g0089 a0001c0001t0015g0078 a0001c0001t0015g0087 a0001c0001t0025g0083 a0001c0001t0026g0063 a0001c0001t0033g0129 a0001c0007t0001g0079 a0001c0007t0001g0080 a0001c0007t0001g0081 a0001c0007t0001g0097 a0001c0018t0001g0075 a0001c0023t0001g0091 a0001c0024t0028g0101 a0002c0002t0001g0046 a0002c0002t0001g0099 a0002c0002t0004g0056 a0002c0002t0004g0058 a0002c0002t0004g0061 a0002c0002t0004g0062 a0002c0002t0006g0018 a0002c0002t0007g0020 a0002c0002t0007g0024 a0002c0002t0007g0025 a0002c0002t0007g0026 a0002c0002t0013g0057 a0002c0008t0010g0117 a0002c0008t0010g0118 a0002c0008t0017g0123 a0002c0008t0017g0125 a0002c0009t0008g0102 a0002c0009t0008g0103 a0002c0009t0008g0104 a0002c0010t0010g0121 a0002c0011t0006g0001 a0002c0011t0006g0023 a0002c0015t0007g0027 a0002c0015t0012g0030 a0002c0016t0018g0120 a0002c0016t0018g0122 a0002c0017t0006g0028 a0002c0026t0010g0119 a0002c0027t0008g0105 a0002c0028t0001g0045 a0002c0031t0006g0022 a0004c0004t0003g0002 a0004c0004t0003g0031 a0004c0004t0003g0032 a0004c0004t0003g0033 a0004c0004t0003g0034 a0004c0004t0003g0035 a0004c0004t0003g0036 a0004c0004t0003g0037 a0004c0014t0016g0113 a0004c0014t0016g0114 a0005c0005t0005g0003 a0005c0005t0005g0038 a0005c0005t0005g0039 a0005c0005t0005g0040 a0005c0005t0005g0041 a0005c0005t0005g0042 a0005c0005t0027g0043 a0006c0025t0004g0059 a0007c0022t0012g0029 a0008c0029t0013g0060	105	132	0.7955	-96	c.160 others(113): Show c.160+1106_160+1201delACACACCACTCACACAACCACTCACATA CCACCCACACGACTCAACACACACACCACTCACACAACCACTCACATACC ACCCACACGACTCAACAC	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding	5/9			chr15	TogoVar
CHST8_chr19_33616953_33778506	33757442	GAAAGAAA others(89): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp1 HG03579.hp2 HG01884.hp2 HG02809.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0176 a0001c0002t0001g0236 a0001c0002t0001g0069 a0001c0002t0001g0176 a0001c0002t0001g0236	3	241	0.0124	-96	c.131 others(115): Show c.131-13969_131-13874delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAAAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST9_chr18_26901481_27190308	27129100	AATTAATT others(89): Show AATTAATTTTGTCTGTTGGATTAGCACACACACACAAAATGTACTTTCAA GTTTCTGTATAAAACACGATAAAACTTTTAGCATTCTGTGACTTAGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18522.hp1 HG02451.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0081 a0001c0001t0051 a0001c0001t0081	a0001c0001t0051g0258 a0001c0001t0081g0255 a0001c0001t0051g0258 a0001c0001t0081g0255	2	253	0.0079	-96	c.121 others(115): Show c.121+13493_121+13588delCCTAAGTCACAGAATGCTAAAAGTTT TATCGTGTTTTATACAGAAACTTGAAAGTACATTTTGTGTGTGTGTGCTA ATCCAACAGACAAAATTAAT	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CKAP4_chr12_106232881_106253020	106251916	TCAGGAAT others(89): Show TCAGGAATGTGGGCGGAGAAGAGGGGGAGCTGGAGACATCTCATCCTTTC ATCCAGCTTGTGTAAAAATGCCTCAGAACTCCCTCATACCACATGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0007 a0002c0001t0001g0007	1	416	0.0024	-96	c.-41 others(107): Show c.-4161_-4066delTGCATGTGGTATGAGGGAGTTCTGAGGCATTTTT ACACAAGCTGGATGAAAGGATGAGATGTCTCCAGCTCCCCCTCTTCTCCG CCCACATTCCTG	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding		3897		chr12	TogoVar
CLCN6_chr1_11801191_11848130	11829630	AACCCTGG others(89): Show AACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAG GGGAACCTGGGAACAACCCTGGCATCACAGAGGGGAACCTGGGAACG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0029 a0001c0005t0029	a0001c0005t0029g0142 a0001c0005t0029g0142	1	288	0.0035	-96	c.124 others(113): Show c.1248+340_1248+435delAACCCTGGCGTCACAGAGGGGAACCTGG GAACAACCCTGGCATCACAGAGGGGAACCTGGGAACGACCCTGGCGTCAC AGAGGGGAACCTGGGAAC	CLCN6	ENSG00000011021.23	transcript	ENST00000346436.11	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLCN6_chr1_11801191_11848130	11829662	AACCCTGG others(89): Show AACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCATCACAGAG GGGAACCTGGGAACGACCCTGGCGTCACAGAGGGGAACCTGGGAACG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02572.hp1 others(5): Show HG02257.hp1 HG02280.hp2 HG02572.hp1 HG02622.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0053 a0001c0003t0004g0143 a0001c0003t0004g0144 others(5): Show a0001c0003t0004g0053 a0001c0003t0004g0143 a0001c0003t0004g0144 a0001c0003t0004g0145 a0001c0003t0004g0146 a0001c0003t0004g0147 a0001c0003t0004g0148 a0001c0003t0004g0149	8	288	0.0278	-96	c.124 others(113): Show c.1248+343_1248+438delCCTGGCGTCACAGAGGGGAACCTGGGAA CAACCCTGGCATCACAGAGGGGAACCTGGGAACGACCCTGGCGTCACAGA GGGGAACCTGGGAACGAC	CLCN6	ENSG00000011021.23	transcript	ENST00000346436.11	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLCN6_chr1_11801191_11848130	11829665	CCTGGCGT others(89): Show CCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCATCACAGAGGGG AACCTGGGAACGACCCTGGCGTCACAGAGGGGAACCTGGGAACGACA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03579.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0020 a0001c0001t0008g0020	2	288	0.0069	-96	c.124 others(113): Show c.1248+392_1248+487delGAACCTGGGAACGACCCTGGCGTCACAG AGGGGAACCTGGGAACGACACTGGCGTCACAGAGGGGAACCTGGGAACAA CCCTGGCATCACAGAGGG	CLCN6	ENSG00000011021.23	transcript	ENST00000346436.11	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLMN_chr14_95176940_95324908	95245169	TTATATTA others(89): Show TTATATTATATATATATATATATATAATATATATATATATTATATATATA TATATATTATATATATATATTATATATATATATATAATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02965.hp2 NA20129.hp2 HG02572.hp2 HG02965.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0057 a0001c0001t0058 a0001c0001t0012 a0001c0001t0057 a0001c0001t0058	a0001c0001t0012g0266 a0001c0001t0057g0267 a0001c0001t0058g0265 a0001c0001t0012g0266 a0001c0001t0057g0267 a0001c0001t0058g0265	3	274	0.0109	-96	c.83- others(113): Show c.83-15132_83-15037delTATATATATATTATATATATATATATAA TATATATATATAATATATATATATATATAATATATATATATATTATATAT ATATATATATATAATATA	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12			chr14	TogoVar
CLSTN2_chr3_139930185_140582397	140490008	GTACATGT others(89): Show GTACATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03041.hp1 HG03209.hp2 others(2): Show HG00621.hp1 HG03041.hp1 HG03209.hp2 HG03516.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0017 others(1): Show a0001c0001 a0002c0002 a0002c0017 a0002c0022	a0001c0001t0001 a0002c0002t0001 a0002c0017t0005 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0017t0005 a0002c0022t0010	a0001c0001t0001g0019 a0001c0001t0001g0093 a0002c0002t0001g0074 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0093 a0002c0002t0001g0074 a0002c0017t0005g0027 a0002c0022t0010g0020	5	106	0.0472	-96	c.134 others(117): Show c.1344+23280_1344+23375delCATGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTATATATATATATATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMKLR2_chr2_206170316_206218371	206173011	AGGGAGAC others(89): Show AGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACGGGAGAGGGA GAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	318	0.0031	-96	c.30 others(107): Show c.3073_*3168delGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTC TCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCT CTCCCGTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2304		chr2	TogoVar
CNBD1_chr8_86861415_87387859	87324492	GTCTATTC others(89): Show GTCTATTCAGAGATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTAT GTGTCAAGGAATGTATCCATTTCTTCTAGATTTTCTAGTTTATTTGC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03486.hp2 NA18522.hp2 HG02809.hp1 HG03486.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0003 a0001c0001t0002g0069 a0003c0003t0002g0007 a0001c0001t0002g0003 a0001c0001t0002g0069 a0003c0003t0002g0007	3	152	0.0197	-96	c.104 others(117): Show c.1043-27192_1043-27097delTCTATTCAGAGATTCAACTTCTTC CTGGTTTAGTCTTGGGAGAGTGTATGTGTCAAGGAATGTATCCATTTCTT CTAGATTTTCTAGTTTATTTGC	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	8/10			chr8	TogoVar
CNTNAP5_chr2_124020287_124926219	124860414	CCCTTCCT others(89): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02897.hp1 others(2): Show HG02145.hp2 HG02723.hp2 HG02897.hp1 HG02970.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0002c0008t0001	a0001c0001t0006g0040 a0001c0002t0001g0064 a0001c0002t0002g0060 others(2): Show a0001c0001t0006g0040 a0001c0002t0001g0064 a0001c0002t0002g0060 a0001c0002t0006g0009 a0002c0008t0001g0039	5	45	0.1111	-96	c.321 others(115): Show c.3218-4853_3218-4758delTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL19A1_chr6_69861556_70217468	69921678	ATATATTC others(89): Show ATATATTCGTATGTAGATTCGTATATATTCGTATGTAGATTCGTATATAT TCGTATGTAGATTCGTATATGTATATTCGTATGTAGATTCGTATATG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0094 a0002c0006t0003g0094	1	180	0.0056	-96	c.267 others(113): Show c.267-6205_267-6110delATTCGTATGTAGATTCGTATATATTCGT ATGTAGATTCGTATATGTATATTCGTATGTAGATTCGTATATGTATATTC GTATGTAGATTCGTATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL20A1_chr20_63288186_63339806	63306165	AGGAAGTT others(89): Show AGGAAGTTCTTCCTCGTGTCTGACCACACGGTCTCTGACCACGAGGCCGG GAAGTTCTTCCTCGTGTCTGACCACACGGTCTCTGACCACGAGGCCG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG06807.hp1 HG03540.hp2 HG06807.hp1	a0009 a0028 a0009 a0028	a0009c0017 a0028c0026 a0009c0017 a0028c0026	a0009c0017t0003 a0028c0026t0025 a0009c0017t0003 a0028c0026t0025	a0009c0017t0003g0104 a0028c0026t0025g0181 a0009c0017t0003g0104 a0028c0026t0025g0181	2	284	0.0070	-96	c.496 others(111): Show c.496+259_496+354delACCACGAGGCCGGGAAGTTCTTCCTCGTGT CTGACCACACGGTCTCTGACCACGAGGCCGGGAAGTTCTTCCTCGTGTCT GACCACACGGTCTCTG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	5/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL4A2_chr13_110302284_110518209	110355782	GGAGGGCT others(89): Show GGAGGGCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGCACTAGCTCA CCTGTGTGTGGGGGGGAGGGCTGTACTAGCTCACCTGTGTGGGGGCT	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0083 a0001c0083	a0001c0083t0001 a0001c0083t0001	a0001c0083t0001g0191 a0001c0083t0001g0191	1	369	0.0027	-96	c.100 others(113): Show c.100-1681_100-1586delTACAGCTCACCTGTGTGAGTGGGGAGGG CTGCACTAGCTCACCTGTGTGTGGGGGGGAGGGCTGTACTAGCTCACCTG TGTGGGGGCTGAGGGCTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134848780	TGATCACA others(89): Show TGATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGAAGCACGGG ATCACACCTCCCAGGAAGCACGGGATCACACCTCCCAGGAAGCACGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0013 a0013	a0013c0055 a0013c0055	a0013c0055t0007 a0013c0055t0007	a0013c0055t0007g0257 a0013c0055t0007g0257	1	258	0.0039	-96	c.64 others(107): Show c.6478_*6573delGATCACACCTCCCAGGAAGCACAGGATCACACCT CCCAGGAAGCACGGGATCACACCTCCCAGGAAGCACGGGATCACACCTCC CAGGAAGCACGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		3938		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849013	GAGCACTG others(89): Show GAGCACTGGATCACACCTCCCAGGGAGCACCGGATCACACCTCCCAGGAA CCACGATATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00673.hp1 others(38): Show HG00140.hp2 HG00558.hp1 HG00673.hp1 HG01071.hp1 HG01071.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01884.hp1 HG01993.hp2 HG02004.hp1 HG02080.hp2 HG02109.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02717.hp1 HG02895.hp2 HG03041.hp1 HG03139.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp2 NA18522.hp1 NA18969.hp2 NA18970.hp1 NA18983.hp2 NA18998.hp1 NA19007.hp2 NA19009.hp2 NA19043.hp1 NA19064.hp1 NA19067.hp2 NA19080.hp2 NA19087.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0008 a0009 a0011	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0016 a0001c0023 a0001c0024 a0001c0028 a0001c0048 a0001c0056 a0002c0013 a0006c0063 a0008c0035 a0009c0030 a0011c0043	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(29): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0024 a0001c0001t0031 a0001c0002t0005 a0001c0002t0016 a0001c0002t0042 a0001c0003t0005 a0001c0003t0014 a0001c0003t0021 a0001c0003t0028 a0001c0003t0044 a0001c0004t0004 a0001c0004t0018 a0001c0005t0014 a0001c0005t0045 a0001c0006t0001 a0001c0006t0019 a0001c0007t0014 a0001c0011t0007 a0001c0016t0012 a0001c0023t0001 a0001c0024t0017 a0001c0028t0004 a0001c0048t0012 a0001c0056t0001 a0002c0013t0021 a0006c0063t0002 a0008c0035t0012 a0009c0030t0001 a0011c0043t0043	a0001c0001t0004g0102 a0001c0001t0004g0173 a0001c0001t0004g0174 others(38): Show a0001c0001t0004g0102 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0056 a0001c0001t0005g0119 a0001c0001t0005g0155 a0001c0001t0008g0260 a0001c0001t0024g0216 a0001c0001t0024g0217 a0001c0001t0031g0075 a0001c0002t0005g0025 a0001c0002t0005g0060 a0001c0002t0005g0063 a0001c0002t0005g0211 a0001c0002t0016g0237 a0001c0002t0042g0190 a0001c0003t0005g0070 a0001c0003t0014g0247 a0001c0003t0021g0169 a0001c0003t0028g0135 a0001c0003t0044g0185 a0001c0004t0004g0089 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0005t0014g0258 a0001c0005t0045g0267 a0001c0006t0001g0108 a0001c0006t0019g0264 a0001c0007t0014g0044 a0001c0011t0007g0027 a0001c0016t0012g0021 a0001c0023t0001g0014 a0001c0024t0017g0180 a0001c0028t0004g0213 a0001c0048t0012g0226 a0001c0056t0001g0084 a0002c0013t0021g0071 a0006c0063t0002g0072 a0008c0035t0012g0008 a0009c0030t0001g0137 a0011c0043t0043g0037	41	253	0.1621	-96	c.67 others(107): Show c.6711_*6806delAGCACTGGATCACACCTCCCAGGGAGCACCGGAT CACACCTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACAGGATCA CACCTCCCAGGA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4171		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849019	TGGATCAC others(89): Show TGGATCACACCTCCCAGGGAGCACCGGATCACACCTCCCAGGAACCACGA TATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGAAGCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0053 a0001c0005t0053	a0001c0005t0053g0105 a0001c0005t0053g0105	1	72	0.0139	-96	c.67 others(112): Show c.6716_*6812delTGGATCACACCTCCCAGGGAGCACCGGATCACAC CTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACAGGATCACACCT CCCAGGAAGCACAinsC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4176		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849019	TGGATCAC others(89): Show TGGATCACACCTCCCAGGGAGCACCGGATCACACCTCCCAGGAACCACGA TATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGAAGCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0242 a0001c0001t0012g0242	1	72	0.0139	-96	c.67 others(112): Show c.6716_*6812delTGGATCACACCTCCCAGGGAGCACCGGATCACAC CTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACAGGATCACACCT CCCAGGAAGCACAinsG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4176		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849093	GATCACAC others(89): Show GATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGGAGCACCGGA TCACACCTCCCAGGGAGCACCAGATCACACCTCCCAGGAACCACGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0188 a0001c0003t0001g0188	1	268	0.0037	-96	c.67 others(107): Show c.6791_*6886delATCACACCTCCCAGGAAGCACAGGATCACACCTC CCAGGGAGCACCGGATCACACCTCCCAGGGAGCACCAGATCACACCTCCC AGGAACCACGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4251		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849157	GAGCACCA others(89): Show GAGCACCAGATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAA GCACAGGATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 NA20300.hp1 HG00408.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0058 a0001c0002 a0001c0058	a0001c0002t0005 a0001c0058t0002 a0001c0002t0005 a0001c0058t0002	a0001c0002t0005g0065 a0001c0058t0002g0127 a0001c0002t0005g0065 a0001c0058t0002g0127	2	224	0.0089	-96	c.68 others(107): Show c.6855_*6950delAGCACCAGATCACACCTCCCAGGAACCACGATAT CACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGAAGCACAGGATCA CACCTCCCAGGA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4315		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849164	AGATCACA others(89): Show AGATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACAGG ATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGAAGCACAG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG04199.hp2 NA19004.hp1 HG03669.hp2 HG04199.hp2 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0003 a0001c0015t0001 a0001c0015t0052 a0001c0002t0003 a0001c0015t0001 a0001c0015t0052	a0001c0002t0003g0154 a0001c0015t0001g0268 a0001c0015t0052g0016 a0001c0002t0003g0154 a0001c0015t0001g0268 a0001c0015t0052g0016	3	81	0.0370	-96	c.68 others(107): Show c.6861_*6956delAGATCACACCTCCCAGGAACCACGATATCACACC TCCCAGGAAGCACAGGATCACACCTCCCAGGAAGCACAGGATCACACCTC CCAGGAAGCACA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4321		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849237	GATCACAC others(89): Show GATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGAAGCACGGGA TCACACCTCCCAGGAACCACAATATCACACCTCCCAGGAACCACGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0004t0018g0029 a0001c0004t0018g0208	2	269	0.0074	-96	c.69 others(107): Show c.6935_*7030delATCACACCTCCCAGGAAGCACAGGATCACACCTC CCAGGAAGCACGGGATCACACCTCCCAGGAACCACAATATCACACCTCCC AGGAACCACGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4395		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849325	AACCACGA others(89): Show AACCACGATATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAA CCACGATATCACACCTCCCAGGAAGCACGGGATCAGACCTCCTGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01109.hp1 HG01255.hp1 others(5): Show HG00408.hp1 HG01109.hp1 HG01255.hp1 HG02572.hp1 HG03669.hp2 HG04199.hp2 NA19004.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0015 others(3): Show a0001c0001 a0001c0002 a0001c0015 a0001c0058 a0005c0034 a0005c0040	a0001c0001t0009 a0001c0002t0003 a0001c0002t0005 others(5): Show a0001c0001t0009 a0001c0002t0003 a0001c0002t0005 a0001c0015t0001 a0001c0015t0052 a0001c0058t0002 a0005c0034t0009 a0005c0040t0009	a0001c0001t0009g0233 a0001c0002t0003g0154 a0001c0002t0005g0065 others(5): Show a0001c0001t0009g0233 a0001c0002t0003g0154 a0001c0002t0005g0065 a0001c0015t0001g0268 a0001c0015t0052g0016 a0001c0058t0002g0127 a0005c0034t0009g0195 a0005c0040t0009g0191	8	266	0.0301	-96	c.70 others(107): Show c.7023_*7118delACCACGATATCACACCTCCCAGGAACCACGATAT CACACCTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACGGGATCA GACCTCCTGGGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4483		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849381	TATCACAC others(89): Show TATCACACCTCCCAGGAAGCACGGGATCAGACCTCCTGGGGAGCACGGGA TCACACCTCCCAGGAAGCACAGTATCACACCTCCCAGGAAGCACGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 NA18969.hp1 NA18970.hp2 others(1): Show HG02004.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0027 a0001c0001 a0001c0004 a0001c0027	a0001c0001t0002 a0001c0004t0002 a0001c0027t0002 a0001c0001t0002 a0001c0004t0002 a0001c0027t0002	a0001c0001t0002g0079 a0001c0001t0002g0115 a0001c0004t0002g0053 others(1): Show a0001c0001t0002g0079 a0001c0001t0002g0115 a0001c0004t0002g0053 a0001c0027t0002g0090	4	185	0.0216	-96	c.70 others(107): Show c.7079_*7174delATCACACCTCCCAGGAAGCACGGGATCAGACCTC CTGGGGAGCACGGGATCACACCTCCCAGGAAGCACAGTATCACACCTCCC AGGAAGCACGGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4539		chr9	TogoVar
COL6A2_chr21_46093112_46134801	46134437	CAGGTTTA others(89): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp1 NA18941.hp2 others(2): Show HG00423.hp2 HG00597.hp1 NA18941.hp2 NA18944.hp1 NA18994.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0044 a0003c0007t0007g0192 a0003c0007t0007g0194 others(2): Show a0003c0007t0007g0044 a0003c0007t0007g0192 a0003c0007t0007g0194 a0003c0007t0007g0202 a0003c0007t0007g0203	5	364	0.0137	-96	c.49 others(107): Show c.4947_*5042delAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGG TGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTG AGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4637		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134437	CAGGTTTA others(89): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp1 NA18941.hp2 others(2): Show HG00423.hp2 HG00597.hp1 NA18941.hp2 NA18944.hp1 NA18994.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0045 a0003c0008t0003g0190 a0003c0008t0003g0192 others(2): Show a0003c0008t0003g0045 a0003c0008t0003g0190 a0003c0008t0003g0192 a0003c0008t0003g0200 a0003c0008t0003g0201	5	357	0.0140	-96	c.18 others(107): Show c.1886_*1981delAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGG TGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTG AGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1590		chr21	TogoVar
COL9A3_chr20_62812050_62846159	62839641	ATGCCCTG others(89): Show ATGCCCTGGAGCCCTCTCCTCTCCTCCACCCACCCCACCTCTCCCTGGGT GCCCTGGAGCCCTCTCCTCTCCTCCACCCACCCCACCTCTCCCTGGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00609.hp2 others(79): Show HG00280.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02165.hp1 HG02257.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03942.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18961.hp1 NA18963.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18984.hp2 NA18993.hp1 NA19002.hp2 NA19003.hp1 NA19030.hp1 NA19043.hp2 NA19068.hp2 NA19070.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0013 a0019 a0020 a0021 a0026	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0010 a0001c0045 a0001c0046 a0002c0006 a0002c0014 a0002c0035 a0003c0007 a0003c0021 a0004c0011 a0006c0019 a0007c0016 a0008c0030 a0010c0022 a0013c0051 a0019c0024 a0020c0029 a0021c0050 a0026c0028	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0002 a0001c0004t0003 a0001c0008t0002 a0001c0010t0002 a0001c0010t0003 a0001c0045t0002 a0001c0046t0003 a0002c0006t0001 a0002c0014t0002 a0002c0014t0003 a0002c0035t0002 a0003c0007t0001 a0003c0021t0002 a0003c0021t0003 a0004c0011t0001 a0006c0019t0002 a0007c0016t0003 a0008c0030t0002 a0010c0022t0002 a0013c0051t0001 a0019c0024t0002 a0020c0029t0003 a0021c0050t0002 a0026c0028t0009	a0001c0001t0001g0031 a0001c0001t0001g0072 a0001c0001t0001g0073 others(72): Show a0001c0001t0001g0031 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0139 a0001c0001t0001g0158 a0001c0001t0001g0174 a0001c0001t0003g0007 a0001c0001t0003g0027 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0173 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0184 a0001c0001t0003g0192 a0001c0001t0003g0224 a0001c0001t0003g0233 a0001c0002t0001g0031 a0001c0002t0003g0007 a0001c0003t0001g0301 a0001c0004t0002g0015 a0001c0004t0002g0065 a0001c0004t0002g0066 a0001c0004t0002g0068 a0001c0004t0002g0071 a0001c0004t0002g0111 a0001c0004t0002g0115 a0001c0004t0002g0116 a0001c0004t0002g0118 a0001c0004t0002g0127 a0001c0004t0002g0129 a0001c0004t0002g0132 a0001c0004t0002g0134 a0001c0004t0002g0210 a0001c0004t0002g0260 a0001c0004t0002g0306 a0001c0004t0002g0339 a0001c0004t0003g0244 a0001c0008t0002g0008 a0001c0008t0002g0053 a0001c0008t0002g0056 a0001c0008t0002g0207 a0001c0008t0002g0213 a0001c0008t0002g0220 a0001c0008t0002g0226 a0001c0010t0002g0041 a0001c0010t0002g0067 a0001c0010t0002g0293 a0001c0010t0002g0296 a0001c0010t0002g0324 a0001c0010t0002g0326 a0001c0010t0003g0322 a0001c0045t0002g0155 a0001c0046t0003g0110 a0002c0006t0001g0142 a0002c0006t0001g0148 a0002c0014t0002g0333 a0002c0014t0003g0140 a0002c0035t0002g0144 a0003c0007t0001g0082 a0003c0007t0001g0088 a0003c0007t0001g0135 a0003c0021t0002g0096 a0003c0021t0003g0079 a0004c0011t0001g0104 a0006c0019t0002g0016 a0007c0016t0003g0018 a0008c0030t0002g0345 a0010c0022t0002g0288 a0010c0022t0002g0289 a0013c0051t0001g0089 a0019c0024t0002g0103 a0020c0029t0003g0347 a0021c0050t0002g0137 a0026c0028t0009g0265	82	310	0.2645	-96	c.186 others(113): Show c.1865-838_1865-743delCTCCTCTCCTCCACCCACCCCACCTCTC CCTGGGTGCCCTGGAGCCCTCTCCTCTCCTCCACCCACCCCACCTCTCCC TGGGTGCCCTGGAGCCCT	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COLEC11_chr2_3590112_3649644	3590716	CCCCCACC others(89): Show CCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGAGCGGGGGGCTGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	376	0.0027	-96	c.-44 others(107): Show c.-4478_-4383delCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGAG CGGGGGGCTGAT	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4395		chr2	TogoVar
COQ8A_chr1_226935294_226992544	226976135	CGGGACTG others(89): Show CGGGACTGCGGGGCTGTGGGACTGCGATGTTGCCTGGCTGCGGGGCTGCG GGACTGCGGGGCTGTGGGACTGCGATGTTGCCTGGCTGCGGGGCTGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18940.hp2 NA18951.hp2 others(4): Show HG00423.hp1 NA18940.hp2 NA18951.hp2 NA18993.hp1 NA19065.hp1 NA19083.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0163 a0001c0001t0004g0179 others(1): Show a0001c0001t0004g0004 a0001c0001t0004g0163 a0001c0001t0004g0179 a0001c0001t0004g0182	7	398	0.0176	-96	c.656 others(113): Show c.656-1265_656-1170delGGGACTGCGGGGCTGTGGGACTGCGATG TTGCCTGGCTGCGGGGCTGTGGGACTGCGGGGCTGTGGGACTGCGATGTT GCCTGGCTGCGGGGCTGC	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226976273	GGGCTGCA others(89): Show GGGCTGCAGGGCTGCGGGACTGCGGGGCTGTGGGACTGCGATGTTGCCGG GCTGCGGGGCTGCGGGACTGCGGGGCTGTGGGACTGCGATGTTGCCT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02027.hp1 HG02071.hp1 others(4): Show HG00609.hp2 HG02027.hp1 HG02071.hp1 HG02165.hp2 HG03834.hp2 NA18948.hp1 NA18970.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0047 a0003c0005t0005g0328 a0003c0005t0005g0330 others(3): Show a0003c0005t0005g0047 a0003c0005t0005g0328 a0003c0005t0005g0330 a0003c0005t0005g0331 a0003c0005t0005g0332 a0003c0005t0005g0333	7	410	0.0171	-96	c.656 others(113): Show c.656-1169_656-1074delAGGGCTGCGGGACTGCGGGGCTGTGGGA CTGCGATGTTGCCGGGCTGCGGGGCTGCGGGACTGCGGGGCTGTGGGACT GCGATGTTGCCTGGCTGC	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CORO2A_chr9_98115975_98197637	98172442	CCACTTCC others(89): Show CCACTTCCAAGCTCAGCCCCACACCCCACTTCTGAGACCCCACACCCCAC TTCCAAGCTCAGCCCCACACCCCACTTCTGAGATCGACCCCATGCCT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	340	0.0029	-96	c.1-1 others(111): Show c.1-14878_1-14783delAGGCATGGGGTCGATCTCAGAAGTGGGGTG TGGGGCTGAGCTTGGAAGTGGGGTGTGGGGTCTCAGAAGTGGGGTGTGGG GCTGAGCTTGGAAGTG	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	1/11			chr9	TogoVar
CPSF2_chr14_92116969_92177145	92173325	ATATATAC others(89): Show ATATATACGTATATATATATGTATATATATATACGTATATATATATGTAT ATATATACGTATATATATATATACACATATGTATATATATATATGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03834.hp2 NA18939.hp1 others(3): Show HG01891.hp1 HG03834.hp2 NA18939.hp1 NA18956.hp2 NA18969.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0141 a0001c0001t0143 others(2): Show a0001c0001t0004 a0001c0001t0141 a0001c0001t0143 a0001c0001t0146 a0001c0001t0148	a0001c0001t0004g0026 a0001c0001t0004g0069 a0001c0001t0141g0134 others(3): Show a0001c0001t0004g0026 a0001c0001t0004g0069 a0001c0001t0141g0134 a0001c0001t0143g0007 a0001c0001t0146g0055 a0001c0001t0148g0129	6	386	0.0155	-96	c.11 others(109): Show c.11582_*11677delTATATACGTATATATATATGTATATATATATA CGTATATATATATGTATATATATACGTATATATATATATACACATATGTA TATATATATATGTG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1181		chr14	TogoVar
CROCC2_chr2_240901336_240998311	240984680	ACACACAC others(89): Show ACACACACACCCAGGCACTCACTCCACACACACACCCAGGCACTCAATCC ACACACACACCCAGGCACTCCACACACACACACCCAGGCACTCACTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(84): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18952.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18968.hp2 NA18973.hp2 NA18984.hp1 NA18994.hp2 NA18998.hp2 NA19005.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19080.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0005 a0006 a0010 a0011 a0013 a0014 a0017 a0018 a0019 a0020 a0022 a0024 a0031 a0038 a0040 a0041 a0049 a0050 a0060	a0001c0001 a0001c0020 a0001c0022 others(33): Show a0001c0001 a0001c0020 a0001c0022 a0001c0024 a0001c0060 a0001c0067 a0001c0089 a0002c0002 a0002c0012 a0002c0070 a0003c0003 a0003c0087 a0005c0005 a0006c0006 a0010c0010 a0010c0048 a0011c0044 a0013c0023 a0013c0075 a0013c0076 a0014c0014 a0017c0062 a0018c0016 a0019c0017 a0020c0026 a0020c0028 a0020c0029 a0022c0077 a0024c0057 a0031c0093 a0038c0052 a0040c0065 a0041c0074 a0049c0083 a0050c0040 a0060c0047	a0001c0001t0001 a0001c0001t0002 a0001c0020t0001 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0020t0001 a0001c0020t0002 a0001c0022t0002 a0001c0024t0002 a0001c0060t0001 a0001c0067t0002 a0001c0089t0001 a0002c0002t0001 a0002c0002t0002 a0002c0012t0002 a0002c0070t0001 a0003c0003t0001 a0003c0087t0002 a0005c0005t0001 a0005c0005t0002 a0006c0006t0001 a0006c0006t0003 a0010c0010t0001 a0010c0010t0003 a0010c0048t0001 a0011c0044t0002 a0013c0023t0001 a0013c0023t0008 a0013c0075t0001 a0013c0076t0001 a0014c0014t0001 a0017c0062t0001 a0018c0016t0001 a0019c0017t0002 a0020c0026t0001 a0020c0028t0001 a0020c0029t0001 a0022c0077t0001 a0024c0057t0002 a0031c0093t0001 a0038c0052t0001 a0040c0065t0002 a0041c0074t0007 a0049c0083t0001 a0050c0040t0001 a0060c0047t0001	a0001c0001t0001g0077 a0001c0001t0001g0104 a0001c0001t0001g0124 others(84): Show a0001c0001t0001g0077 a0001c0001t0001g0104 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0176 a0001c0001t0001g0237 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0262 a0001c0001t0002g0280 a0001c0001t0002g0293 a0001c0001t0002g0299 a0001c0001t0002g0321 a0001c0001t0002g0336 a0001c0001t0002g0343 a0001c0020t0001g0137 a0001c0020t0002g0312 a0001c0022t0002g0318 a0001c0024t0002g0341 a0001c0024t0002g0342 a0001c0060t0001g0171 a0001c0067t0002g0278 a0001c0089t0001g0158 a0002c0002t0001g0010 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0002g0246 a0002c0002t0002g0288 a0002c0012t0002g0284 a0002c0012t0002g0285 a0002c0012t0002g0286 a0002c0012t0002g0347 a0002c0070t0001g0021 a0003c0003t0001g0029 a0003c0003t0001g0042 a0003c0003t0001g0058 a0003c0003t0001g0062 a0003c0003t0001g0064 a0003c0087t0002g0349 a0005c0005t0001g0051 a0005c0005t0001g0129 a0005c0005t0001g0130 a0005c0005t0002g0316 a0005c0005t0002g0348 a0006c0006t0001g0033 a0006c0006t0001g0073 a0006c0006t0001g0095 a0006c0006t0001g0116 a0006c0006t0001g0181 a0006c0006t0003g0106 a0010c0010t0001g0145 a0010c0010t0001g0189 a0010c0010t0001g0203 a0010c0010t0001g0215 a0010c0010t0001g0216 a0010c0010t0001g0226 a0010c0010t0003g0221 a0010c0048t0001g0202 a0011c0044t0002g0301 a0013c0023t0001g0143 a0013c0023t0008g0126 a0013c0075t0001g0007 a0013c0076t0001g0150 a0014c0014t0001g0019 a0014c0014t0001g0023 a0014c0014t0001g0152 a0014c0014t0001g0153 a0017c0062t0001g0136 a0018c0016t0001g0187 a0019c0017t0002g0241 a0019c0017t0002g0243 a0019c0017t0002g0344 a0020c0026t0001g0031 a0020c0028t0001g0048 a0020c0029t0001g0032 a0022c0077t0001g0127 a0024c0057t0002g0338 a0031c0093t0001g0072 a0038c0052t0001g0003 a0040c0065t0002g0253 a0041c0074t0007g0231 a0049c0083t0001g0154 a0050c0040t0001g0105 a0060c0047t0001g0188	87	348	0.2500	-96	c.455 others(115): Show c.4551+1782_4551+1877delCCAGGCACTCAATCCACACACACACC CAGGCACTCCACACACACACACCCAGGCACTCACTCCACACACACCCAGG CACTCACTCCACACACACAC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar

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